NM_000170.3:c.52G>T - CAGS

NM_000170.3:c.52G>T

HGVS Expressions

NG_016397.1:g.5245G>T
NM_000170.3:c.52G>T
NP_000161.2:p.Gly18Cys

Associated Genes

Glycine Decarboxylase

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Genomic Location

chr9:6645448

Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
605899.2.1	Lebanon	2		Likely Pathogenic	Glycine Encephalopathy	Jalkh et al. 2019
605899.2.2	Lebanon	2		Likely Pathogenic	Glycine Encephalopathy	Jalkh et al. 2019	Sibling of 605899.2.1

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Contributors

Pratibha Nair: 15.11.2020

Edit History

Pratibha Nair: 15.11.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.